175 citations
,
September 1998 in “British Journal of Dermatology” Keratin 17 gene mutations cause both steatocystoma multiplex and pachyonychia congenita type 2.
118 citations
,
August 2010 in “Developmental Cell” MIM is crucial for hair follicle formation and regeneration by controlling cilia formation and hedgehog signaling through its interaction with Cortactin and Src.
117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
73 citations
,
June 2006 in “Animal genetics” The FGF5 gene determines hair length in dogs.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
23 citations
,
January 2017 in “BMC Medical Genetics” A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
23 citations
,
July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
21 citations
,
July 2010 in “International Journal of Cosmetic Science” Older people's hair becomes less shiny because it gets more uneven and curved.
20 citations
,
January 2016 in “Open Journal of Endocrine and Metabolic Diseases” PCOS affects fertility and is linked to obesity and menstrual irregularities; lifestyle changes are recommended for treatment.
20 citations
,
April 2014 in “Autoimmunity” A specific gene variant (rs4833095) is linked to a higher risk of alopecia areata in Koreans.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
18 citations
,
March 2014 in “Current Pharmaceutical Biotechnology” Metformin helps regulate menstrual cycles, induce ovulation, and improve pregnancy outcomes in women with PCOS.
17 citations
,
November 2017 in “Asian-Australasian journal of animal sciences” Certain gene mutations are linked to wool quality in sheep and could help in breeding for better wool.
16 citations
,
March 2025 in “International Journal of Molecular Sciences” Extracellular vesicles show promise in skin treatments but need more research and standardization.
16 citations
,
January 2010 in “Journal of Korean medical science/Journal of Korean Medical Science” A Korean boy's skin and digestive symptoms were caused by a rare genetic disorder that affects zinc absorption, and he got better with zinc supplements.
14 citations
,
July 2010 in “Experimental Dermatology” A new mutation in the HR gene causes hair loss in a specific family.
11 citations
,
January 2021 in “British Journal of Dermatology” Mutations in the AP1B1 gene cause a new syndrome with skin, hearing, and developmental issues.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
11 citations
,
April 2012 in “Journal of Investigative Dermatology” A specific mutation in PA-PLA1α causes abnormal hair growth.
11 citations
,
February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
11 citations
,
August 1997 in “Expert Opinion on Therapeutic Patents” Many potential alopecia treatments need more testing to confirm they promote acceptable hair growth with minimal side effects.
9 citations
,
June 2020 in “Animal genetics” Scientists found genes linked to hair length in Brangus cattle that could help breed heat-tolerant cattle.
7 citations
,
May 2021 in “Animal Genetics” The CORIN gene variant causes the golden color in Siberian cats.
5 citations
,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
4 citations
,
March 2013 in “Neuropsychiatric Disease and Treatment” A woman with anorexia and Cushing's syndrome improved after tumor removal, highlighting the need to consider hormonal issues in psychiatric conditions.
2 citations
,
February 2021 in “The Pediatric Infectious Disease Journal” Hair loss may be a delayed side effect of Multisystem Inflammatory Syndrome in children after COVID-19.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
1 citations
,
December 2022 in “BMC Genomics” The Msx2 gene affects feather development in Hungarian white geese and a specific gene variation could indicate feather quality.
1 citations
,
August 2022 in “Case Reports” A rare ovarian tumor caused high testosterone, hair loss, and missed periods, but surgery fixed these issues and led to pregnancy.